ClinVar Miner

List of variants in gene POLE studied for Malignant tumor of breast

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) rs139182500 0.00028
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.5653G>A (p.Ala1885Thr) rs748008084 0.00004
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.6028T>C (p.Cys2010Arg) rs1593709200
NM_006231.4(POLE):c.605C>T (p.Thr202Ile) rs1432402314

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